TBX2

T-box transcription factor 2

Summary

This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This gene product is the human homolog of mouse Tbx2, and shares strong sequence similarity with Drosophila omb protein. Expression studies indicate that this gene may have a potential role in tumorigenesis as an immortalizing agent. Transcript heterogeneity due to alternative polyadenylation has been noted for this gene. [provided by RefSeq, Jul 2008]

Known Variants106 total

rsidPosition (GRCh37)AllelesClassClinVar
rs100042317:59,475,642C/A——
rs6207130617:59,476,066A/Cupstream gene variant—
rs147678117:59,476,415T/Ccoding sequence variant—
rs160324049017:59,477,546G/A—likely benign
rs121985884217:59,477,558G/C—likely benign
rs136470948317:59,477,596G/A—pathogenic
rs206025857317:59,477,647T/G—likely pathogenic
rs139042641117:59,477,668C/A—uncertain significance
rs75719534017:59,477,689C/A—uncertain significance
rs104830892217:59,477,701C/T—uncertain significance
rs250951764317:59,477,704G/A—uncertain significance
rs86702371317:59,477,713G/A—uncertain significance
rs116870057917:59,477,728C/T—uncertain significance
rs156901423317:59,477,738G/T—likely benign
rs54988502017:59,477,765C/A—likely benign
rs77694600817:59,477,777G/A—likely benign
rs137901704517:59,477,806G/T—uncertain significance
rs37749411017:59,477,861G/C—likely benign
rs74667851517:59,477,883G/A—uncertain significance
rs7574367217:59,477,903A/C—benign
rs122666104317:59,477,928G/C—uncertain significance
rs3444611017:59,478,354G/Cupstream gene variant—
rs1295262517:59,478,644G/C——
rs13912547617:59,479,073G/C—uncertain significance
rs104740834617:59,479,080G/T—uncertain significance
rs75588734717:59,479,126C/T—likely benign
rs250951876417:59,479,130G/A—uncertain significance
rs250951878717:59,479,148T/C—likely pathogenic
rs20179326617:59,479,203G/A—uncertain significance
rs88725817:59,479,580C/Gregulatory region variant—
rs1293779217:59,480,291T/A——
rs146875735317:59,480,464A/G—uncertain significance
rs75626571917:59,480,503A/T—uncertain significance
rs14001382317:59,480,547C/T—likely benign
rs76548872117:59,480,556C/Astop gained—
rs250952047417:59,481,818A/G—uncertain significance
rs214373170817:59,481,860T/C—conflicting classifications of pathogenicity
rs20024576217:59,481,989C/G—uncertain significance
rs20140739917:59,481,992C/A—uncertain significance
rs155587707117:59,481,993G/A—uncertain significance
rs37628463217:59,482,032C/A—uncertain significance
rs37143379117:59,482,050C/G—uncertain significance
rs18229003517:59,482,065C/A—likely benign
rs11367672317:59,482,067G/T—uncertain significance
rs77049214917:59,482,070C/T—likely benign
rs55267936617:59,482,084C/A—likely benign
rs37752096517:59,482,087C/T—likely benign
rs5629820217:59,482,166C/Tregulatory region variant—
rs3561971117:59,482,169C/G—benign
rs989111517:59,482,173G/A—benign
rs37325745017:59,482,567G/A—benign
rs160324157517:59,482,601C/T—likely pathogenic
rs77529142617:59,482,631G/A—uncertain significance
rs37217836617:59,482,636G/A—likely benign
rs160324160417:59,482,671C/T—benign
rs18922700917:59,482,690C/T—benign
rs74916019817:59,482,699C/T—likely benign
rs14061090817:59,482,723G/A—likely benign
rs20028730917:59,482,746G/A—uncertain significance
rs91838866617:59,482,753C/A—uncertain significance
rs148766972017:59,482,754G/C—uncertain significance
rs75095421717:59,482,758C/T—uncertain significance
rs76644344717:59,482,773G/A—uncertain significance
rs119846228717:59,482,806A/G—uncertain significance
rs76757353917:59,482,910G/T—uncertain significance
rs250952172917:59,482,986A/T—uncertain significance
rs54005576717:59,482,987C/T—likely benign
rs56861795717:59,483,027A/G—uncertain significance
rs55423938017:59,483,071C/T—likely benign
rs250952182717:59,483,087C/T—uncertain significance
rs145803486317:59,483,095C/G—likely benign
rs77103215117:59,483,101G/C—likely benign
rs76092692017:59,483,117G/C—uncertain significance
rs36864741517:59,483,202G/A—likely benign
rs806831817:59,483,766C/Tintron variant—
rs1294019717:59,484,105G/C——
rs721585817:59,484,113G/T——
rs721577517:59,484,316A/Gupstream gene variant—
rs807369817:59,484,833C/Tupstream gene variant—
rs807415117:59,485,017G/Aupstream gene variant—
rs807803617:59,485,120G/Aupstream gene variant—
rs224073617:59,485,393C/T—benign
rs14908307217:59,485,440G/C—benign
rs6175621917:59,485,501C/G—likely benign
rs76359321717:59,485,506C/A—uncertain significance
rs250952301017:59,485,514G/A—uncertain significance
rs74825102417:59,485,525C/T—likely benign
rs14041188417:59,485,528C/A—likely benign
rs76489688017:59,485,550C/G—uncertain significance
rs105798717:59,485,555C/T—benign
rs19193092217:59,485,575G/A—benign
rs76250021817:59,485,621G/A—likely benign
rs250952315817:59,485,658G/A—uncertain significance
rs250952316017:59,485,662G/A—uncertain significance
rs77253808817:59,485,694C/T—uncertain significance
rs3449315617:59,485,721C/T—uncertain significance
rs77323080217:59,485,757C/T—uncertain significance
rs6175197817:59,485,758C/T—benign
rs120650556317:59,485,775G/T—uncertain significance
rs130433191717:59,485,779C/T—uncertain significance

Showing 100 of 106 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.